2006
DOI: 10.1038/sj.cr.7310120
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RNase MRP RNA and human genetic diseases

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Cited by 67 publications
(51 citation statements)
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“…Incapacitating mutations within the RNA component of RNase MRP are found in a wide range of positions and may include various substitutions, duplications, insertions, and deletions, typically in phylogenetically conserved regions of RNA (Bonafé et al 2005;Hermanns et al 2006;Hirose et al 2006;Martin and Li 2007, and references therein). The type and severity of clinical manifestations are apparently defined by the type/localization of the mutations in the two affected alleles.…”
Section: Esakova and Krasilnikovmentioning
confidence: 99%
“…Incapacitating mutations within the RNA component of RNase MRP are found in a wide range of positions and may include various substitutions, duplications, insertions, and deletions, typically in phylogenetically conserved regions of RNA (Bonafé et al 2005;Hermanns et al 2006;Hirose et al 2006;Martin and Li 2007, and references therein). The type and severity of clinical manifestations are apparently defined by the type/localization of the mutations in the two affected alleles.…”
Section: Esakova and Krasilnikovmentioning
confidence: 99%
“…Yeast RNase MRP is also involved in the regulation of the cell cycle by cleaving the 59 UTR of cyclin B2 mRNA (Cai et al 1999(Cai et al , 2002Gill et al 2006). Defects in RNase MRP function result in a variety of recessive pleiotropic diseases typically characterized by dwarfism (Ridanpaa et al 2001;Thiel et al 2005;Martin and Li 2007;Glazov et al 2011); the mechanisms responsible for the development of these diseases are not known.…”
Section: Introductionmentioning
confidence: 99%
“…Characterization of a mutant strain shows that Drosophila MRP (dMRP) is an essential gene. dMRP mutants display a severe impairment in growth, a characteristic shared with human diseases carrying mutations in this gene (Martin and Li 2007). These phenotypic defects could be the result of impairments at different stages of rRNA processing that we have observed.…”
Section: Introductionmentioning
confidence: 69%
“…Ridanpää et al (2001) described a set of mutations in the RMRP gene that cosegregate with the phenotype of the autosomal recessive disease cartilage-hair 5 hypoplasia (CHH). Various RMRP mutations are now known to be associated with other disorders such as Omenn syndrome and anauxetic dysplasia (Thiel et al 2005;Martin and Li 2007). Short stature is common to all of these diseases; however, each disease presents a characteristic spectrum of other defects affecting a broad range of organs (Makitie et al 2001a,b;Martin and Li 2007;ToiviainenSalo et al 2008).…”
Section: Introductionmentioning
confidence: 99%
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